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3. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Richard G; Rouan F; Willoughby CE; Brown N; Chung P; Ryynänen M; Jabs EW; Bale SJ; DiGiovanna JJ; Uitto J; Russell L Am J Hum Genet; 2002 May; 70(5):1341-8. PubMed ID: 11912510 [TBL] [Abstract][Full Text] [Related]
4. A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome. Neoh CY; Chen H; Ng SK; Lane EB; Common JE Int J Dermatol; 2009 Oct; 48(10):1078-81. PubMed ID: 19785089 [TBL] [Abstract][Full Text] [Related]
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12. Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. Yotsumoto S; Hashiguchi T; Chen X; Ohtake N; Tomitaka A; Akamatsu H; Matsunaga K; Shiraishi S; Miura H; Adachi J; Kanzaki T Br J Dermatol; 2003 Apr; 148(4):649-53. PubMed ID: 12752120 [TBL] [Abstract][Full Text] [Related]
13. Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. Wonkam A; Noubiap JJ; Bosch J; Dandara C; Toure GB BMC Med Genet; 2013 Aug; 14():81. PubMed ID: 23924173 [TBL] [Abstract][Full Text] [Related]
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16. KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation. Bygum A; Betz RC; Kragballe K; Steiniche T; Peeters N; Wuyts W; Nöthen MM Acta Derm Venereol; 2005; 85(2):152-5. PubMed ID: 15823911 [TBL] [Abstract][Full Text] [Related]
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